Varaico: Literature-Extracted Genetic Variants

TNNI3K

139 papers

RefSeq Summary

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought ...

Pfam Domains

Ank_2aa 45–131UCSCAnkyrin repeats (3 copies)

Ank_2aa 113–197UCSCAnkyrin repeats (3 copies)

Ank_2aa 204–300UCSCAnkyrin repeats (3 copies)

Ank_2aa 292–370UCSCAnkyrin repeats (3 copies)

PK_Tyr_Ser-Thraa 463–719UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

TNNI3 interacting kinase

HGNC Alias Symbol

CARK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015978.3

p.L577F

c.1729C>T

Surrounding Variants

3 papers

NM_015978.3

p.M574I

c.1722G>A

3 papers

NM_015978.3

p.M574I

c.1722G>C

3 papers

NM_015978.3

p.M574I

c.1722G>T

1 paper

NM_015978.3

p.P583S

c.1747C>T

1 paper

NM_015978.3

p.V570F

c.1708G>T

1 paper

NM_015978.3

p.I566T

c.1697T>C

1 paper

NM_015978.3

p.I565M

c.1695T>G

1 paper

NM_015978.3

p.D588E

c.1764C>A

1 paper

NM_015978.3

p.D588E

c.1764C>G

2 papers

NM_015978.3

p.S591T

c.1772G>C

1 paper

NM_015978.3

p.L558I

c.1672C>A

1 paper

NM_015978.3

p.R556W

c.1666A>T